E-LIB Suche - Ergebnisse für: Walne, Amanda

1

Germline thymidylate synthase deficiency impacts nucleotide..:

Tummala, Hemanth ; Walne, Amanda ; Buccafusca, Roberto...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1494 , 2024

Link: https://doi.org/10.1016/..

2

Acquired somatic variants in inherited myeloid malignancies:

Armes, Hannah ; Rio-Machin, Ana ; Krizsán, Szilvia...
Leukemia. 36 (2022) 5 - p. 1377-1381 , 2022

Link: https://doi.org/10.1038/..

3

The biology and management of dyskeratosis congenita and re..:

Tummala, Hemanth ; Walne, Amanda ; Dokal, Inderjeet
Expert Review of Hematology. 15 (2022) 8 - p. 685-696 , 2022

Link: https://doi.org/10.1080/..

4

Germline thymidylate synthase deficiency impacts nucleotide..:

Tummala, Hemanth ; Walne, Amanda ; Buccafusca, Roberto...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1472-1483 , 2022

Link: https://doi.org/10.1016/..

5

High-throughput STELA provides a rapid test for the diagnos..:

Norris, Kevin ; Walne, Amanda J. ; Ponsford, Mark J....
Human Genetics. 140 (2021) 6 - p. 945-955 , 2021

Link: https://doi.org/10.1007/..

6

Genome-wide whole-blood transcriptome profiling across inhe..:

Walne, Amanda J. ; Vulliamy, Tom ; Bewicke-Copley, Findlay...
Blood Advances. 5 (2021) 23 - p. 5360-5371 , 2021

Link: https://doi.org/10.1182/..

7

The complex genetic landscape of familial MDS and AML revea..:

Rio-Machin, Ana ; Vulliamy, Tom ; Hug, Nele...
Nature Communications. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

8

A frameshift variant in specificity protein 1 triggers supe..:

Tummala, Hemanth ; Walne, Amanda J. ; Bewicke-Copley, Findlay...
Proceedings of the National Academy of Sciences. 117 (2020) 29 - p. 17151-17155 , 2020

Link: https://doi.org/10.1073/..

9

A frameshift variant in specificity protein 1 triggers supe..:

Tummala, Hemanth ; Walne, Amanda J. ; Bewicke-Copley, Findlay...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 29 - p. 17151-17155 , 2020

Link: https://www.jstor.org/st..

10

Genome instability is a consequence of transcription defici..:

Tummala, Hemanth ; Dokal, Arran D. ; Walne, Amanda...
Proceedings of the National Academy of Sciences. 115 (2018) 30 - p. 7777-7782 , 2018

Link: https://doi.org/10.1073/..

11

Genome instability is a consequence of transcription defici..:

Tummala, Hemanth ; Dokal, Arran D. ; Walne, Amanda...
Proceedings of the National Academy of Sciences of the United States of America. 115 (2018) 30 - p. 7777-7782 , 2018

Link: https://www.jstor.org/st..

12

Long tails, short telomeres: Dyskeratosis congenita:

Tummala, Hemanth ; Walne, Amanda J.
Oncotarget. 6 (2015) 16 - p. 13856-13857 , 2015

Link: https://doi.org/10.18632..

13

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis..:

Walne, Amanda J. ; Vulliamy, Tom ; Kirwan, Michael..
The American Journal of Human Genetics. 92 (2013) 3 - p. 448-453 , 2013

Link: https://doi.org/10.1016/..

14

Haematological recovery in dyskeratosis congenita patients ..:

Islam, Amin ; Rafiq, Shafquat ; Kirwan, Mike...
British Journal of Haematology. 162 (2013) 6 - p. 854-856 , 2013

Link: https://doi.org/10.1111/..

15

Marked genetic heterogeneity in familial myelodysplasia/acu..:

Holme, Harriet ; Hossain, Upal ; Kirwan, Michael...
British Journal of Haematology. 158 (2012) 2 - p. 242-248 , 2012

Link: https://doi.org/10.1111/..